Incidental Mutation 'IGL02535:Acap1'
ID |
297455 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Acap1
|
Ensembl Gene |
ENSMUSG00000001588 |
Gene Name |
ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 |
Synonyms |
Centb1 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02535
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
69772393-69786365 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 69773520 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Aspartic acid
at position 430
(N430D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104262
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001631]
[ENSMUST00000050555]
[ENSMUST00000108622]
[ENSMUST00000178597]
|
AlphaFold |
Q8K2H4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000001631
AA Change: N618D
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000001631 Gene: ENSMUSG00000001588 AA Change: N618D
Domain | Start | End | E-Value | Type |
Pfam:BAR_3
|
5 |
240 |
2.1e-68 |
PFAM |
PH
|
266 |
362 |
4.42e-15 |
SMART |
ArfGap
|
405 |
527 |
2.42e-50 |
SMART |
ANK
|
606 |
635 |
4.01e0 |
SMART |
ANK
|
639 |
668 |
3.04e0 |
SMART |
ANK
|
672 |
702 |
4.18e2 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000050555
|
SMART Domains |
Protein: ENSMUSP00000059107 Gene: ENSMUSG00000046731
Domain | Start | End | E-Value | Type |
Pfam:BTB_2
|
1 |
73 |
1.8e-11 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000108622
AA Change: N430D
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000104262 Gene: ENSMUSG00000001588 AA Change: N430D
Domain | Start | End | E-Value | Type |
PH
|
78 |
174 |
4.42e-15 |
SMART |
ArfGap
|
217 |
339 |
2.42e-50 |
SMART |
ANK
|
418 |
447 |
4.01e0 |
SMART |
ANK
|
451 |
480 |
3.04e0 |
SMART |
ANK
|
484 |
514 |
4.18e2 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127238
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000178597
|
SMART Domains |
Protein: ENSMUSP00000137492 Gene: ENSMUSG00000094845
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
Pfam:TMEM95
|
17 |
168 |
3.9e-83 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198919
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc9 |
G |
T |
6: 142,574,152 (GRCm39) |
D993E |
probably benign |
Het |
Actl11 |
T |
A |
9: 107,807,136 (GRCm39) |
D486E |
possibly damaging |
Het |
Adh6a |
A |
G |
3: 138,033,151 (GRCm39) |
N281D |
probably benign |
Het |
Apon |
A |
T |
10: 128,090,823 (GRCm39) |
E167V |
probably damaging |
Het |
Bahcc1 |
T |
A |
11: 120,178,362 (GRCm39) |
M2307K |
possibly damaging |
Het |
Cdca3 |
A |
G |
6: 124,807,521 (GRCm39) |
T10A |
probably damaging |
Het |
Cplane1 |
T |
G |
15: 8,204,322 (GRCm39) |
V65G |
probably damaging |
Het |
Dusp16 |
T |
C |
6: 134,695,790 (GRCm39) |
E347G |
probably benign |
Het |
Dysf |
A |
T |
6: 84,126,679 (GRCm39) |
Y1298F |
possibly damaging |
Het |
F12 |
T |
C |
13: 55,574,157 (GRCm39) |
D25G |
possibly damaging |
Het |
F5 |
T |
A |
1: 164,026,302 (GRCm39) |
S1625T |
probably damaging |
Het |
Fbxl2 |
T |
C |
9: 113,808,575 (GRCm39) |
E372G |
probably benign |
Het |
Flrt1 |
T |
C |
19: 7,074,098 (GRCm39) |
I150V |
probably benign |
Het |
Grin2b |
T |
A |
6: 135,756,367 (GRCm39) |
I453F |
possibly damaging |
Het |
Hivep2 |
C |
T |
10: 14,015,241 (GRCm39) |
R1803C |
probably damaging |
Het |
Il33 |
A |
G |
19: 29,930,147 (GRCm39) |
N81D |
probably benign |
Het |
Ipo7 |
T |
C |
7: 109,653,233 (GRCm39) |
Y977H |
probably damaging |
Het |
Lyst |
T |
C |
13: 13,824,927 (GRCm39) |
V1514A |
probably benign |
Het |
Map1a |
C |
A |
2: 121,132,658 (GRCm39) |
S920* |
probably null |
Het |
Nlrp9c |
T |
C |
7: 26,071,522 (GRCm39) |
N862S |
probably damaging |
Het |
Or1e29 |
A |
G |
11: 73,667,442 (GRCm39) |
V237A |
probably benign |
Het |
Or8k22 |
A |
G |
2: 86,163,019 (GRCm39) |
M227T |
probably damaging |
Het |
Or9s23 |
C |
A |
1: 92,500,943 (GRCm39) |
Q17K |
probably benign |
Het |
P2rx2 |
T |
A |
5: 110,490,219 (GRCm39) |
T134S |
probably benign |
Het |
Papolg |
T |
C |
11: 23,840,245 (GRCm39) |
D77G |
probably benign |
Het |
Pkd1l3 |
A |
T |
8: 110,367,522 (GRCm39) |
R1240* |
probably null |
Het |
Radx |
A |
T |
X: 138,393,396 (GRCm39) |
K217I |
probably damaging |
Het |
Slc22a8 |
A |
T |
19: 8,587,567 (GRCm39) |
T514S |
probably benign |
Het |
Slc39a5 |
T |
C |
10: 128,235,199 (GRCm39) |
D136G |
probably benign |
Het |
Tnn |
T |
C |
1: 159,950,222 (GRCm39) |
|
probably null |
Het |
Trav8d-2 |
A |
T |
14: 53,280,141 (GRCm39) |
S44C |
probably damaging |
Het |
Tubb1 |
A |
G |
2: 174,299,359 (GRCm39) |
N347S |
probably benign |
Het |
Ubap1 |
C |
T |
4: 41,379,667 (GRCm39) |
R294* |
probably null |
Het |
Ube2o |
C |
T |
11: 116,432,591 (GRCm39) |
V792M |
probably benign |
Het |
Usp13 |
A |
G |
3: 32,892,075 (GRCm39) |
S85G |
probably benign |
Het |
Vmac |
C |
T |
17: 57,022,550 (GRCm39) |
M61I |
probably benign |
Het |
Vmn1r54 |
T |
A |
6: 90,246,260 (GRCm39) |
I58N |
possibly damaging |
Het |
Zmym5 |
A |
G |
14: 57,035,123 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Acap1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00325:Acap1
|
APN |
11 |
69,773,517 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL01148:Acap1
|
APN |
11 |
69,781,729 (GRCm39) |
nonsense |
probably null |
|
IGL01398:Acap1
|
APN |
11 |
69,772,548 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01583:Acap1
|
APN |
11 |
69,772,503 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02002:Acap1
|
APN |
11 |
69,775,286 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02078:Acap1
|
APN |
11 |
69,786,112 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02083:Acap1
|
APN |
11 |
69,780,336 (GRCm39) |
missense |
possibly damaging |
0.74 |
IGL02669:Acap1
|
APN |
11 |
69,785,421 (GRCm39) |
unclassified |
probably benign |
|
IGL03125:Acap1
|
APN |
11 |
69,777,864 (GRCm39) |
missense |
probably damaging |
1.00 |
autobot
|
UTSW |
11 |
69,772,548 (GRCm39) |
missense |
probably damaging |
1.00 |
Drone
|
UTSW |
11 |
69,781,297 (GRCm39) |
missense |
probably benign |
0.21 |
R0127:Acap1
|
UTSW |
11 |
69,778,043 (GRCm39) |
splice site |
probably benign |
|
R0243:Acap1
|
UTSW |
11 |
69,776,252 (GRCm39) |
missense |
probably damaging |
0.98 |
R0604:Acap1
|
UTSW |
11 |
69,775,451 (GRCm39) |
missense |
probably benign |
0.01 |
R0863:Acap1
|
UTSW |
11 |
69,777,882 (GRCm39) |
missense |
probably damaging |
0.98 |
R1331:Acap1
|
UTSW |
11 |
69,773,202 (GRCm39) |
splice site |
probably null |
|
R1911:Acap1
|
UTSW |
11 |
69,772,548 (GRCm39) |
missense |
probably damaging |
1.00 |
R1994:Acap1
|
UTSW |
11 |
69,780,324 (GRCm39) |
missense |
probably benign |
0.41 |
R2411:Acap1
|
UTSW |
11 |
69,776,311 (GRCm39) |
missense |
probably damaging |
1.00 |
R2442:Acap1
|
UTSW |
11 |
69,780,317 (GRCm39) |
missense |
possibly damaging |
0.46 |
R2910:Acap1
|
UTSW |
11 |
69,777,902 (GRCm39) |
splice site |
probably benign |
|
R4164:Acap1
|
UTSW |
11 |
69,780,863 (GRCm39) |
missense |
probably benign |
0.22 |
R4223:Acap1
|
UTSW |
11 |
69,774,511 (GRCm39) |
missense |
probably damaging |
0.99 |
R4562:Acap1
|
UTSW |
11 |
69,776,177 (GRCm39) |
intron |
probably benign |
|
R4676:Acap1
|
UTSW |
11 |
69,780,294 (GRCm39) |
missense |
probably benign |
0.22 |
R4852:Acap1
|
UTSW |
11 |
69,775,202 (GRCm39) |
missense |
probably benign |
0.30 |
R4921:Acap1
|
UTSW |
11 |
69,778,019 (GRCm39) |
missense |
probably damaging |
0.98 |
R4928:Acap1
|
UTSW |
11 |
69,776,641 (GRCm39) |
missense |
possibly damaging |
0.81 |
R5536:Acap1
|
UTSW |
11 |
69,780,133 (GRCm39) |
missense |
probably benign |
0.11 |
R5886:Acap1
|
UTSW |
11 |
69,775,162 (GRCm39) |
missense |
probably benign |
|
R6053:Acap1
|
UTSW |
11 |
69,777,896 (GRCm39) |
critical splice acceptor site |
probably null |
|
R6196:Acap1
|
UTSW |
11 |
69,777,893 (GRCm39) |
missense |
probably damaging |
0.98 |
R6220:Acap1
|
UTSW |
11 |
69,780,505 (GRCm39) |
missense |
probably damaging |
0.99 |
R6295:Acap1
|
UTSW |
11 |
69,781,413 (GRCm39) |
critical splice donor site |
probably null |
|
R6333:Acap1
|
UTSW |
11 |
69,774,427 (GRCm39) |
missense |
possibly damaging |
0.65 |
R6414:Acap1
|
UTSW |
11 |
69,775,162 (GRCm39) |
missense |
probably benign |
|
R6848:Acap1
|
UTSW |
11 |
69,775,487 (GRCm39) |
missense |
probably damaging |
1.00 |
R6952:Acap1
|
UTSW |
11 |
69,776,343 (GRCm39) |
missense |
probably benign |
0.30 |
R7243:Acap1
|
UTSW |
11 |
69,781,297 (GRCm39) |
missense |
probably benign |
0.21 |
R8066:Acap1
|
UTSW |
11 |
69,780,689 (GRCm39) |
missense |
probably benign |
0.05 |
R8691:Acap1
|
UTSW |
11 |
69,781,003 (GRCm39) |
missense |
probably damaging |
0.99 |
R8704:Acap1
|
UTSW |
11 |
69,773,489 (GRCm39) |
missense |
possibly damaging |
0.49 |
R9032:Acap1
|
UTSW |
11 |
69,772,491 (GRCm39) |
missense |
probably damaging |
1.00 |
R9233:Acap1
|
UTSW |
11 |
69,775,484 (GRCm39) |
missense |
probably benign |
0.00 |
R9397:Acap1
|
UTSW |
11 |
69,775,672 (GRCm39) |
missense |
probably damaging |
1.00 |
X0012:Acap1
|
UTSW |
11 |
69,772,515 (GRCm39) |
missense |
probably damaging |
1.00 |
X0027:Acap1
|
UTSW |
11 |
69,772,549 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Acap1
|
UTSW |
11 |
69,773,269 (GRCm39) |
missense |
probably benign |
|
|
Posted On |
2015-04-16 |